Canonical Allele Identifier: CA000604
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 189497
ClinVar RCV Id: RCV000589842 RCV001078170 RCV001192785
dbSNP Id: rs786204940
gnomAD v2: 10-89623390-C-T
gnomAD v3: 10-87863633-C-T
gnomAD v4: 10-87863633-C-T
MyVariant Identifiers: chr10:g.89623390C>T (hg19) chr10:g.87863633C>T (hg38)
ERepo: CA000604/MONDO:0017623/003
PubMed: PMID:25669429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863633C>T , CM000672.2:g.87863633C>T GRCh38
NC_000010.10:g.89623390C>T , CM000672.1:g.89623390C>T GRCh37
NC_000010.9:g.89613370C>T NCBI36
NG_007466.2:g.5196C>T , LRG_311:g.5196C>T
NG_033079.1:g.4805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-837C>T (PTEN) ENSP00000514759.2:n.-837C>T
ENST00000710265.1:c.-837C>T (PTEN) ENSP00000518161.1:n.-837C>T
ENST00000706954.1:c.-16-821C>T (PTEN) ENSP00000516674.1:n.-16-821C>T
ENST00000706955.1:c.-837C>T (PTEN) ENSP00000516675.1:n.-837C>T
ENST00000688158.1:c.-837C>T (PTEN) ENSP00000509254.1:n.-837C>T
ENST00000688308.1:c.-17+520C>T (PTEN) ENSP00000508752.1:n.-17+520C>T
ENST00000692337.1:c.75C>T (MLDHR) ENSP00000509326.1:p.Ser25=
ENST00000693560.1:c.-317C>T (PTEN) ENSP00000509861.1:n.-317C>T
ENST00000371953.8:c.-837C>T (PTEN) MANE Select ENSP00000361021.3:n.-837C>T
ENST00000371953.7:c.-837C>T (PTEN) ENSP00000361021.3:n.-837C>T
ENST00000610634.1:c.-939C>T (PTEN) ENSP00000477517.1:n.-939C>T
NM_000314.5:c.-836C>T (PTEN) NP_000305.3:n.-836C>T
NM_000314.6:c.-836C>T (PTEN) NP_000305.3:n.-836C>T
NM_001304717.2:c.-317C>T (PTEN) NP_001291646.2:n.-317C>T
NM_001304718.1:c.-1541C>T (PTEN) NP_001291647.1:n.-1541C>T
NM_000314.7:c.-836C>T (PTEN) NP_000305.3:n.-836C>T
NM_001304717.5:c.-317C>T (PTEN) NP_001291646.4:n.-317C>T
NM_001304718.2:c.-1541C>T (PTEN) NP_001291647.1:n.-1541C>T
NM_000314.8:c.-837C>T (PTEN) MANE Select NP_000305.3:n.-837C>T
Search 100 bp 5'
Search 100 bp 3'